Varaico: Literature-Extracted Genetic Variants

Gene:FTL
Variant:p.L166insFs
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FTL

NM_000146.4:p.L166insFs

Associated Papers

Pathogenic mechanism and modeling of neuroferritinopathy.

Cozzi A et al.

Cellular and Molecular Life Sciences : Cmls, 2021

A Patient with Neuroferritinopathy Presenting with Juvenile-Onset Voice Tremor.

Park CW et al.

Journal of Movement Disorders, 2020

L-Ferritin: One Gene, Five Diseases; from Hereditary Hyperferritinemia to Hypoferritinemia-Report of New Cases.

Cadenas B et al.

Pharmaceuticals (basel, Switzerland), 2019

Iron, Ferritin, Hereditary Ferritinopathy, and Neurodegeneration.

Muhoberac BB et al.

Frontiers in Neuroscience, 2019

Neuroferritinopathy: From ferritin structure modification to pathogenetic mechanism.

Levi S et al.

Neurobiology of Disease, 2015

A novel FTL mutation responsible for neuroferritinopathy with asymmetric clinical features and brain anomalies.

Moutton S et al.

Parkinsonism & Related Disorders, 2014

Genetics and Pathophysiology of Neurodegeneration with Brain Iron Accumulation (NBIA).

Schneider SA et al.

Current Neuropharmacology, 2013

Abnormal iron homeostasis and neurodegeneration.

Muhoberac BB et al.

Frontiers in Aging Neuroscience, 2013

A mutant light-chain ferritin that causes neurodegeneration has enhanced propensity toward oxidative damage.

Baraibar MA et al.

Free Radical Biology & Medicine, 2012

Abnormal iron metabolism in fibroblasts from a patient with the neurodegenerative disease hereditary ferritinopathy.

Barbeito AG et al.

Molecular Neurodegeneration, 2010

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."